{"orpha":2040,"name":"Congenital respiratory-biliary fistula","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2040/","orphanet_url":"https://www.orpha.net/en/disease/detail/2040","names":{"fr":{"name":"Fistule congénitale entre voix respiratoires et canaux biliaires","definition":"La fistule bronchobiliaire congénitale (FBBC) est un trouble rare du développement, caractérisé par une connexion anormale de la trachée ou des bronches avec le canal hépatique gauche, et se présentant par une détresse respiratoire, des infections respiratoires récurrentes et une expectoration biliaire ou des vomissements."},"de":{"name":"Fistel, broncho-biliäre kongenitale"},"es":{"name":"Fístula respiratorio-biliar congénita","definition":"La fístula broncobiliar (FBB) congénita es un defecto del desarrollo poco frecuente caracterizado por una conexión anómala de la tráquea o bronquio con el conducto hepático izquierdo que se manifiesta como dificultad respiratoria, infecciones respiratorias recurrentes y expectoración o vómito biliar."},"it":{"name":"Fistola broncobiliare congenita"},"nl":{"name":"Congenitale respiratoire-biliaire fistel","definition":"Aangeboren respiratoire-biliaire fistel (RBF) is een zeldzame ontwikkelingsstoornis gekenmerkt door een afwijkende connectie van de luchtpijp of bronchus met de linker leverbuis en presenteert zich met ademnood, terugkerende infecties van de luchtwegen, opgeven van gal of braaksel."},"pt":{"name":"Fístula bronco-biliar congénita"},"pl":{"name":"Wrodzona przetoka oskrzelowo-żółciowa"},"cs":{"name":"Vrozená bronchobiliární píštěl"},"uk":{"name":"Вроджена бронхобіліарна нориця","definition":"Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus."},"zh":{"name":"先天性呼吸道-胆道瘘"},"tr":{"name":"Doğumsal solunum-safra fistülü"}},"xrefs":[{"source":"ICD-10","code":"Q32.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA74.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"420429663"},{"source":"MONDO","code":"0016080","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5231000","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1475","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":108993,"name":"Non-syndromic respiratory or mediastinal malformation","classifications":[147,186]},{"orpha":108971,"name":"Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen","classifications":[147,182,233]},{"orpha":101941,"name":"Rare biliary tract disease","classifications":[183]},{"orpha":182111,"name":"Respiratory malformation","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"21516501[PMID]_19586763[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002777","label":"Tracheal stenosis","frequency":"Very frequent (99-80%)","criteria":null}]}}